Jill A. Rosenfeld - Concepedia

Author

Jill A. Rosenfeld

Inserm

Also Known As

Jennifer Wambach, Jill A Rosenfeld, Jill A. Rosenfeld, Jill. A. Rosenfeld, Jill A. Rosenfeld, María José Ortuño Romero

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Inserm Génétique Médicale & Génomique Fonctionelle Centre National de la Recherche Scientifique Baylor College of Medicine Université d'Angers

About

Jill A. Rosenfeld is an author at Inserm specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	916
2	Neuroscience	3	3	715
3	Social Sciences	2	2	129
4	Molecular Genetics	1	1	62
5	Neurology	1	1	35

Jill A. Rosenfeld

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Cell Developmental AnomalyConfer RiskDevelopmental BiologyMendelian DisorderGenetic Disorder	2012	586
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant, Cell	2012	427
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Davor Lessel, Claudia Schob, Sébastien Küry, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2017	107
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity Hiromi Hirata, Indrajit Nanda, Anne van Riesen, The American Journal of Human Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology	2013	90
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Jing Zhang, Tomasz Gambin, Bo Yuan, Human Genetics Neurodevelopmental DisordersIntellectual ImpairmentDevelopmental BiologyAutism Spectrum DisordersSyndromic Autism	2017	62
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Genetics in Medicine Neurodevelopmental DisordersDevelopmental BiologyBrain DevelopmentGenetic DisorderGenetics	2019	35
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder Sébastien Küry, Frédéric Ebstein, Alice Mollé, The American Journal of Human Genetics Developmental BiologyMolecular NeuroscienceSyndromic Neurodevelopmental DisorderBrain DevelopmentGenetic Disorder	2022	22
Rare pathogenic variants in WNK3 cause X-linked intellectual disability Sébastien Küry, Jinwei Zhang, Thomas Besnard, Genetics in Medicine Rare Pathogenic VariantsGenetic DisorderGeneticsPathogenesisGenetic Epidemiology	2022	14

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